ClinVar for Gene (Select 8202) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2799616	NM_181659.3(NCOA3):c.3741GCA[4] (p.Gln1274_Gln1276del)	LOC109621227, NCOA3	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 2652377	NM_181659.3(NCOA3):c.3786G>A (p.Gln1262=)	LOC109621227, NCOA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652376	NM_181659.3(NCOA3):c.3759G>A (p.Gln1253=)	LOC109621227, NCOA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652375	NM_181659.3(NCOA3):c.3016C>T (p.Gln1006Ter)	NCOA3 (Q1001* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2619364	NM_181659.3(NCOA3):c.3425T>G (p.Met1142Arg)	NCOA3 (M1137R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606753	NM_181659.3(NCOA3):c.3341C>G (p.Thr1114Arg)	NCOA3 (T1109R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606667	NM_181659.3(NCOA3):c.3385C>G (p.Gln1129Glu)	NCOA3 (Q1129E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535170	NM_181659.3(NCOA3):c.419A>G (p.Asn140Ser)	NCOA3 (N140S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527688	NM_181659.3(NCOA3):c.2032T>G (p.Leu678Val)	NCOA3 (L688V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523067	NM_181659.3(NCOA3):c.3998A>G (p.Asn1333Ser)	NCOA3 (N1329S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2521103	NM_181659.3(NCOA3):c.751C>T (p.Arg251Cys)	NCOA3 (R251C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518828	NM_181659.3(NCOA3):c.3248A>G (p.Asn1083Ser)	NCOA3 (N1078S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510581	NM_181659.3(NCOA3):c.836A>G (p.Asn279Ser)	NCOA3 (N279S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473665	NM_181659.3(NCOA3):c.2533G>C (p.Val845Leu)	NCOA3 (V845L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473405	NM_181659.3(NCOA3):c.2875C>G (p.Pro959Ala)	NCOA3 (P954A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469882	NM_181659.3(NCOA3):c.560C>A (p.Thr187Asn)	NCOA3 (T187N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462244	NM_181659.3(NCOA3):c.3892G>A (p.Gly1298Arg)	NCOA3 (G1297R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460511	NM_181659.3(NCOA3):c.3592C>G (p.Pro1198Ala)	NCOA3 (P1193A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409822	NM_181659.3(NCOA3):c.1390A>G (p.Ser464Gly)	NCOA3 (S464G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409531	NM_181659.3(NCOA3):c.32T>C (p.Leu11Pro)	NCOA3 (L11P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404131	NM_181659.3(NCOA3):c.2590G>A (p.Val864Ile)	NCOA3 (V864I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399903	NM_181659.3(NCOA3):c.1424C>G (p.Pro475Arg)	NCOA3 (P475R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398226	NM_181659.3(NCOA3):c.2324C>G (p.Pro775Arg)	NCOA3 (P785R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396784	NM_181659.3(NCOA3):c.3487C>T (p.Arg1163Trp)	NCOA3 (R1158W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385688	NM_181659.3(NCOA3):c.106C>T (p.Arg36Trp)	NCOA3 (R36W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2377421	NM_181659.3(NCOA3):c.973A>G (p.Asn325Asp)	NCOA3 (N325D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371959	NM_181659.3(NCOA3):c.3000A>T (p.Gln1000His)	NCOA3 (Q1000H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351024	NM_181659.3(NCOA3):c.4028C>T (p.Ser1343Phe)	NCOA3 (S1339F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347522	NM_181659.3(NCOA3):c.3374G>A (p.Gly1125Asp)	NCOA3 (G1125D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336180	NM_181659.3(NCOA3):c.2926C>G (p.Gln976Glu)	NCOA3 (Q971E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331224	NM_181659.3(NCOA3):c.3144T>G (p.Ser1048Arg)	NCOA3 (S1048R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319419	NM_181659.3(NCOA3):c.1166C>T (p.Pro389Leu)	NCOA3 (P399L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316563	NM_181659.3(NCOA3):c.2255C>T (p.Ser752Phe)	NCOA3 (S762F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301254	NM_181659.3(NCOA3):c.1417C>T (p.Leu473Phe)	NCOA3 (L473F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294736	NM_181659.3(NCOA3):c.457G>C (p.Val153Leu)	NCOA3 (V153L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286648	NM_181659.3(NCOA3):c.476A>G (p.Asn159Ser)	NCOA3 (N159S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2274042	NM_181659.3(NCOA3):c.3607G>A (p.Ala1203Thr)	NCOA3 (A1198T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265303	NM_181659.3(NCOA3):c.3500C>G (p.Pro1167Arg)	NCOA3 (P1167R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251373	NM_181659.3(NCOA3):c.3359C>T (p.Pro1120Leu)	NCOA3 (P1115L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238584	NM_181659.3(NCOA3):c.1670C>T (p.Thr557Ile)	NCOA3 (T557I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227342	NM_181659.3(NCOA3):c.1654C>T (p.Pro552Ser)	NCOA3 (P562S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222049	NM_181659.3(NCOA3):c.1344G>A (p.Met448Ile)	NCOA3 (M448I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211404	NM_181659.3(NCOA3):c.1403A>G (p.His468Arg)	NCOA3 (H468R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809152	GRCh37/hg19 20q13.12-13.13(chr20:46203730-46521403)x3	NCOA3, SULF2	Copy number gain	not provided	GUncertain significance
Select item 1341001	GRCh37/hg19 20q13.12-13.13(chr20:46147529-46438075)x3	NCOA3, SULF2	Copy number gain	not provided	GUncertain significance
Select item 1340350	GRCh37/hg19 20q13.12(chr20:45626379-46257019)x3	EYA2, NCOA3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 1185585	NM_181659.3(NCOA3):c.2810C>G (p.Ser937Cys)	NCOA3 (S932C +1 more)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment	GPathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 775436	NM_181659.3(NCOA3):c.1675C>T (p.Pro559Ser)	NCOA3 (P569S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770669	NM_181659.3(NCOA3):c.3792A>G (p.Gln1264=)	LOC109621227, NCOA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739965	NM_181659.3(NCOA3):c.3132G>A (p.Leu1044=)	NCOA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	LOC130065861, LOC130065862 +568 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 145874	GRCh38/hg38 20q13.12(chr20:47390946-47514274)x3	LINC01754, LOC116286208 +19 more	Copy number gain	See cases	GLikely benign
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	LOC125387319, LOC125387320 +1024 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 58